Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
GUF1 Q8N442 GUF1 homolog, GTPase Enzyme 5.3E-18 0.805 0.154 12
PMPCB O75439 peptidase, mitochondrial processing subunit beta Enzyme 4.5E-08 0.769 0.192 16
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231 51
BOLA3 Q53S33 bolA family member 3 0.15 0.760 0.231 19
NAXD Q8IW45 NAD(P)HX dehydratase 7.0E-03 0.839 0.231 19
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231 13
TMLHE Q9NVH6 trimethyllysine hydroxylase, epsilon 8.0E-05 0.821 0.231 4
GFM2 Q969S9 G elongation factor mitochondrial 2 Enzyme 1.5E-18 0.736 0.269 15
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269 14
SLC25A42 Q86VD7 solute carrier family 25 member 42 Transporter 0.49 0.760 0.269 10
CNPY3 Q9BT09 canopy FGF signaling regulator 3 0.40 0.805 0.269 9
TRAPPC2L Q9UL33 trafficking protein particle complex 2 like 3.7E-11 0.805 0.269 9
STX1B P61266 syntaxin 1B Transporter 0.99 0.650 0.308 26
ADPRS Q9NX46 ADP-ribosylserine hydrolase 5.8E-04 0.743 0.308 18
KCNT1 Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 2.8E-05 0.610 0.308 18
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308 8
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346 52
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346 51
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346 50
EIF2B3 Q9NR50 eukaryotic translation initiation factor 2B subunit gamma 0.57 0.729 0.346 32
LYRM7 Q5U5X0 LYR motif containing 7 2.2E-02 0.716 0.346 28
MRPS34 P82930 mitochondrial ribosomal protein S34 2.6E-03 0.722 0.346 26
NAXE Q8NCW5 NAD(P)HX epimerase 2.4E-06 0.743 0.346 25
ETHE1 O95571 ETHE1 persulfide dioxygenase Enzyme 4.6E-06 0.686 0.346 23